Haemochromatosis arthropathy, or joint disease, leads to progressive thinning and loss of cartilage within a joint, bone bruising, damage and new bone growth (osteophytes) around the edge of the joint. The processes linking genetic mutations in the HFE and other genes, problems with iron metabolism and arthropathy are not completely understood. It is assumed that ongoing iron overload is the principal cause of joint damage, however this may not be the only explanation. Most patients find that removal of excess iron from the body makes little difference to joint stiffness or pain or long term difference to the progression of joint damage.
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This video of Dr Patrick Kiely, Consultant Rheumatologist and one of our charity's clinical advisors explores how genetic haemochromatosis causes arthropathy.
Currently ‘treatment’ of haemochromatosis arthropathy is symptom based, aiming to reduce pain, joint swelling and stiffness and improve function. There is much that can be done to protect joints and reduce symptoms, even though we have no therapies which prevent or slow down the disease process. In the early stages joint pain and stiffness can be effectively reduced with non-pharmacological and pharmacological (medication) interventions and at later stages, when advanced joint damage has occurred, surgery can be a very effective means of controlling pain.
This guide by the Haemochromatosis Arthropathy Research Initiative (HARI) was part-funded by our charity.